KIT 基因突变在源于与慢性和间歇性阳光暴露相关解剖部位的黑色素瘤中发生的频率较低。
Mutations in KIT occur at low frequency in melanomas arising from anatomical sites associated with chronic and intermittent sun exposure.
机构信息
Research Division Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, Victoria, Australia.
出版信息
Pigment Cell Melanoma Res. 2010 Apr;23(2):210-5. doi: 10.1111/j.1755-148X.2010.00671.x. Epub 2010 Jan 20.
In melanoma, mutations in KIT are most frequent in acral and mucosal subtypes and rarely reported in cutaneous melanomas particularly those associated with intermittent UV exposure. Conversely melanomas arising within chronic sun damaged skin are considered to harbour KIT mutations at higher rates. To characterize the frequency of KIT mutations in a representative melanoma population, 261 patients from two Australian melanoma centres were prospectively screened for mutations in exons 11, 13 and 17 of the KIT gene. A total of 257 patients had cutaneous melanoma arising from non-acral sites and four were acral melanomas. No mucosal or ocular melanomas were analysed. KIT mutations were identified in five tumours (2% of the entire cohort) including two acral melanomas. Two of the three non-acral melanomas with KIT mutations were associated with markers of chronic sun damage as assessed by the degree of skin elastosis. In the remaining cohort, 43% had chronically sun damaged skin. This report confirms that within an Australian population, KIT mutations are infrequent in cutaneous melanomas associated with both intermittent and chronic sun exposed skin.
在黑色素瘤中,KIT 基因突变最常见于肢端和黏膜亚型,而在皮肤黑色素瘤中很少见,特别是那些与间歇性紫外线暴露相关的黑色素瘤。相反,在慢性日光损伤皮肤中发生的黑色素瘤被认为具有更高的 KIT 基因突变率。为了描述代表性黑色素瘤人群中 KIT 突变的频率,我们前瞻性地对来自澳大利亚两个黑色素瘤中心的 261 例患者进行了 KIT 基因外显子 11、13 和 17 的突变筛查。共有 257 例患者的皮肤黑色素瘤来自非肢端部位,4 例为肢端黑色素瘤。未分析黏膜或眼部黑色素瘤。在 5 个肿瘤(整个队列的 2%)中发现了 KIT 突变,包括 2 个肢端黑色素瘤。非肢端黑色素瘤中 KIT 突变的 3 例中有 2 例与皮肤弹性组织变性评估的慢性日光损伤标志物有关。在其余队列中,43%的患者有慢性日光损伤的皮肤。本报告证实,在澳大利亚人群中,KIT 突变在与间歇性和慢性暴露于阳光的皮肤相关的皮肤黑色素瘤中并不常见。